ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.376-9T>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728355 SCV000855914 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing
OMIM RCV000768422 SCV000899174 pathogenic CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE 2019-04-29 no assertion criteria provided literature only
Undiagnosed Diseases Network,NIH RCV000735227 SCV000863436 likely pathogenic MPV17-related mitochondrial DNA maintenance defect 2018-09-05 criteria provided, single submitter clinical testing RNA sequencing showed change in splicing

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